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51. Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

Author

Tiller, Jane, primary, Bakshi, Andrew, additional, Dowling, Grace, additional, Keogh, Louise, additional, McInerney-Leo, Aideen, additional, Barlow-Stewart, Kristine, additional, Boughtwood, Tiffany, additional, Gleeson, Penny, additional, Delatycki, Martin B., additional, Winship, Ingrid, additional, Otlowski, Margaret, additional, and Lacaze, Paul, additional

Published
2023
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52. Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

Author

Tiller, Jane, primary, Bakshi, Andrew, additional, Dowling, Grace, additional, Keogh, Louise, additional, McInerney-Leo, Aideen, additional, Barlow-Stewart, Kristine, additional, Boughtwood, Tiffany, additional, Gleeson, Penny, additional, Delatycki, Martin B., additional, Winship, Ingrid, additional, Otlowski, Margaret, additional, and Lacaze, Paul, additional

Published
2023
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53. Missense variant contribution to USP9X-female syndrome

Author

Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, and Gecz, Jozef

Published
2020
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54. Psychometric properties of the Friedreich Ataxia Rating Scale

Author

Rummey, Christian, Corben, Louise A., Delatycki, Martin B., Subramony, S.H., Bushara, Khalaf, Gomez, Christopher M., Hoyle, Joseph Chad, Yoon, Grace, Ravina, Bernard, Mathews, Katherine D., Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Farmer, Jennifer M., and Lynch, David R.

Published
2019
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56. Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial

Author

Ong, Sim Y, Gurrin, Lyle C, Dolling, Lara, Dixon, Jeanette, Nicoll, Amanda J, Wolthuizen, Michelle, Wood, Erica M, Anderson, Gregory J, Ramm, Grant A, Allen, Katrina J, Olynyk, John K, Crawford, Darrell, Ramm, Louise E, Gow, Paul, Durrant, Simon, Powell, Lawrie W, and Delatycki, Martin B

Published
2017
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57. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Author

Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, and Stark, Zornitza

Published
2020
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58. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain

Author

Righetti, Sarah, Allcock, Richard J. N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B. P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P., Laboratory Genetic Metabolic Diseases, and Amsterdam Gastroenterology Endocrinology Metabolism

Subjects
Literature review, Purine-Pyrimidine Metabolism, Inborn Errors, Brain Diseases, Movement Disorders, Carrier frequency, Endocrinology, Diabetes and Metabolism, UPB1, Beta-ureidopropionase deficiency, Biochemistry, Phenotype, Endocrinology, β-ureidopropionase, Genetics, Humans, Variant, Molecular Biology
Abstract

Background: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. Aim: We aimed to reassess the relationship between variants in UPB1 and a clinical phenotype. Methods: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a previously published case and reporting of additional cases. Results: Fifty-three published cases were identified, and two additional cases are reported here. Of these, 14 were asymptomatic and four had transient neurological features; clinical features in the remainder were variable and included non-neurological presentations. Several of the variants previously reported as pathogenic are present in population databases at frequencies higher than expected for a rare condition. In particular, the variant most frequently reported as pathogenic, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 19 and 1 in 907 being homozygous for the variant in gnomAD v2.1.1. Conclusion: Pending the availability of further evidence, UPB1 should be considered a ‘gene of uncertain clinical significance’. Caution should be used in ascribing clinical significance to biochemical features of beta-ureidopropionase deficiency and/or UPB1 variants in patients with neurodevelopmental phenotypes. UPB1 is not currently suitable for inclusion in gene panels for reproductive genetic carrier screening. Synopsis: The relationship between beta-ureidopropionase deficiency due to UPB1 variants and clinical phenotypes is uncertain.

Published
2022

63. An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?

Author

Wang, Tianjiao, Scuffham, Paul, Byrnes, Joshua, Delatycki, Martin B., and Downes, Martin

Abstract

Background & Aim: Reproductive carrier screening seeks to identify couples at a high risk of having offspring affected by autosomal recessive and X‐linked (XL) conditions. The aim of this paper is to provide a comprehensive overview of existing carrier screening panels by examining their gene content and characteristics, identifying the most common genes/conditions included in these panels, and analyzing their listed prices. Methods: A comprehensive evaluation of existing carrier screening panels was conducted by searching for web‐based content, reviewing information brochures, and establishing direct contact with the providers via email or phone. Results: Twenty‐two panels and their providers were identified with a cumulative total of 2205 unique genes. The number of genes included in these panels varied from 44 to 2054. Only 15 genes (0.7%) were included in all the panels. The carrier frequency of these 15 common genes and their associated conditions varied greatly, but the conditions associated with the genes are "severe". The price of these 22 panels ranged from $349 to $4320 per couple (USD in 2023). The correlation between the listed price and the number of selected genes among these panels was small and not statistically significant (r = 0.1023, p = 0.6959). Conclusion: Considerable discrepancies exist among carrier screening panels. Ongoing research and monitoring are necessary to capture the dynamic nature of the carrier screening landscape, providing up‐to‐date information for clinical practice and informed decision‐making. Key points: What's already known about this topic?Previously, carrier screening focused on a limited number of common conditions, but now panels for hundreds of conditions are commercially available.The carrier screening market has experienced significant changes, with new providers entering and old providers exiting. What does this review add?There are considerable differences in gene content among the identified carrier screening panels.Rapid changes in this field were found due to acquisitions, providers discontinuing services, and new providers entering the market.This study identified 15 genes that were present in all the identified panels, with all of them associated with "severe" conditions.The correlation between the price and the number of selected genes was small and not statistically significant. [ABSTRACT FROM AUTHOR]

Published
2023
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66. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Author

Archibald, Alison Dalton, Smith, Melanie Jane, Burgess, Trent, Scarff, Katrina Louise, Elliott, Justine, Hunt, Clare Elizabeth, Barns-Jenkins, Caitlin, Holt, Chelsea, Sandoval, Karina, Siva Kumar, Vanessa, Ward, Lisa, Allen, Emily Caroline, Collis, Sarah Valerie, Cowie, Shannon, Francis, David, Delatycki, Martin B, Yiu, Eppie Mildred, Massie, R John, Pertile, Mark Domenic, du Sart, Desirée, Bruno, Damien, and Amor, David J

Published
2018
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67. Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening

Author

Scarff, Katrina L., primary, Flowers, Nicola, additional, Love, Clare J., additional, Archibald, Alison D., additional, Hunt, Clare E., additional, Giouzeppos, Olivia, additional, Elliott, Justine, additional, Delatycki, Martin B., additional, and Pertile, Mark D., additional

Published
2023
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68. Response to Li and Sun

Author

Freeman, Lucinda, primary, Delatycki, Martin B., additional, Scully, Jackie Leach, additional, and Kirk, Edwin P., additional

Published
2023
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71. Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension

Author

Lynch, David R., primary, Chin, Melanie P., additional, Boesch, Sylvia, additional, Delatycki, Martin B., additional, Giunti, Paola, additional, Goldsberry, Angie, additional, Hoyle, J. Chad, additional, Mariotti, Caterina, additional, Mathews, Katherine D., additional, Nachbauer, Wolfgang, additional, O'Grady, Megan, additional, Perlman, Susan, additional, Subramony, S.H., additional, Wilmot, George, additional, Zesiewicz, Theresa, additional, and Meyer, Colin J., additional

Published
2022
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72. A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol

Author

Georgiou-Karistianis, Nellie, primary, Corben, Louise A., additional, Reetz, Kathrin, additional, Adanyeguh, Isaac M., additional, Corti, Manuela, additional, Deelchand, Dinesh K., additional, Delatycki, Martin B., additional, Dogan, Imis, additional, Evans, Rebecca, additional, Farmer, Jennifer, additional, França, Marcondes C., additional, Gaetz, William, additional, Harding, Ian H., additional, Harris, Karen S., additional, Hersch, Steven, additional, Joules, Richard, additional, Joers, James J., additional, Krishnan, Michelle L., additional, Lax, Michelle, additional, Lock, Eric F., additional, Lynch, David, additional, Mareci, Thomas, additional, Muthuhetti Gamage, Sahan, additional, Pandolfo, Massimo, additional, Papoutsi, Marina, additional, Rezende, Thiago J. R., additional, Roberts, Timothy P. L., additional, Rosenberg, Jens T., additional, Romanzetti, Sandro, additional, Schulz, Jörg B., additional, Schilling, Traci, additional, Schwarz, Adam J., additional, Subramony, Sub, additional, Yao, Bert, additional, Zicha, Stephen, additional, Lenglet, Christophe, additional, and Henry, Pierre-Gilles, additional

Published
2022
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77. Final Stakeholder Report of the Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A-GLIMMER) Project

Author

Tiller, Jane, Gleeson, Penny, McInerney-Leo, Aideen M., Keogh, Louise, Nowak, Kristen, Barlow-Stewart, Kristine, Boughtwood, Tiffany, Delatycki, Martin B., Winship, Ingrid, Otlowski, Margaret, and Lacaze, Paul

Subjects
Law and society and socio-legal research, Public health not elsewhere classified, Genomics, Medical ethics, Health policy
Abstract

The A-GLIMMER Project recommends that: 1. The Australian Government amend the Disability Discrimination Act 1992 (Cth) (‘the Act’) to prohibit insurers from using genetic or genomic test results to discriminate between applicants for risk-rated insurance, and consider amendments to the regulation of financial services to ensure insurers are subject to a positive duty to not discriminate. 2. The Australian Government allocate responsibility and appropriate resources to the Australian Human Rights Commission (‘AHRC’) to enforce, promote, educate and support individuals and all relevant stakeholders to understand and meet the new legal obligations under the Act. The AHRC should consult with a range of genetics and genomics experts and stakeholders to achieve this goal. In 2018, a Joint Parliamentary Committee Inquiry into the Life Insurance Industry recommended that Australia urgently implement a moratorium (or ban) on the use of genetic test results in life insurance underwriting. In 2019, the life insurance industry introduced a partial moratorium requiring applicants to disclose genetic test results only for policies above certain financial limits. This moratorium is industry self-regulated, with no government oversight. To investigate effectiveness of the moratorium as a regulatory solution to genetic discrimination in Australian life insurance, the Commonwealth Government funded the Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A-GLIMMER) Project from 2020- 2023. This Final Stakeholder Report sets out the A-GLIMMER Project findings – published and unpublished – and makes recommendations to the Australian Government (the Project funder). The studies undertaken as part of the Project investigated the views and experiences of health professionals, consumers, researchers, and financial advisors. The A-GLIMMER Project’s research findings demonstrate that the moratorium is inadequate to address and prevent genetic discrimination in life insurance. It should be replaced with a legislative model of prohibition.

Published
2023
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78. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

Author

Rafehi, Haloom, Read, Justin, Szmulewicz, David J., Davies, Kayli C., Snell, Penny, Fearnley, Liam G., Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F., Munro, Jacob E., Ngo, Kathie J., Chen, Luke, Wallis, Mathew J., Butler, Ernest G., Kumar, Kishore R., Wu, Kathy HC., Tomlinson, Susan E., Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A., Roberts, Leslie J., Fogel, Brent L., Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B., Bahlo, Melanie, and Lockhart, Paul J.

Subjects
Article
Abstract

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) repeat expansion in fibroblast growth factor 14 (FGF14). Genetic analysis of 95 Australian individuals with adult-onset ataxia identified four (4.2%) with (GAA)(>300) and a further nine individuals with (GAA)(>250). PCR and long-read sequence analysis revealed these were pure (GAA) repeats. In comparison, no control subjects had (GAA)(>300) and only 2/311 control individuals (0.6%) had a pure (GAA)(>250). In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 (5.3%) control subjects had (GAA)(>250) but none were (GAA)(>335). The combined data suggest (GAA)(>335) are disease causing and fully penetrant (p = 6.0 × 10(−8), OR = 72 [95% CI = 4.3–1,227]), while (GAA)(>250) is likely pathogenic with reduced penetrance. Affected individuals had an adult-onset, slowly progressive cerebellar ataxia with variable features including vestibular impairment, hyper-reflexia, and autonomic dysfunction. A negative correlation between age at onset and repeat length was observed (R(2) = 0.44, p = 0.00045, slope = −0.12) and identification of a shared haplotype in a minority of individuals suggests that the expansion can be inherited or generated de novo during meiotic division. This study demonstrates the power of genome sequencing and advanced bioinformatic tools to identify novel repeat expansions via model-free, genome-wide analysis and identifies SCA50/ATX-FGF14 as a frequent cause of adult-onset ataxia.

Published
2022

79. NON-INVASIVE PRENATAL TESTING FOR "NON-MEDICAL" TRAITS: ENSURING CONSISTENCY IN ETHICAL DECISION-MAKING.

Author

BOWMAN-SMART, HILARY, GYNGELL, CHRISTOPHER, MAND, CARA, AMOR, DAVID J., DELATYCKI, MARTIN B., and SAVULESCUA, JULIAN

Subjects
ETHICAL decision making, PRENATAL diagnosis
Abstract

The scope of noninvasive prenatal testing (NIPT) could expand in the future to inciude detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a genetic contribution. including "non-medical" traits. Here we discuss the potential use of NIPT for these traits. We outline a scenario which highlights possible inconsistencies with ethical decision-making. We then discuss the case against permitting these uses. The objections include practical problems: increasing inequities; increasing the burden of choice: negative impacts on the child. family, and society, and issues with implementation, We then outline the case for permitting the use of NiPT for these traits. These include arguments for reproductive liberty and autonomy: questioning the labeling of traits as "non-medical": and the principle of procreative beneficence. This summary of the case for and against can sen+e as a basis for the development of a consistent and coherent ethical framework. [ABSTRACT FROM AUTHOR]

Published
2023

80. A novel intronic GAA repeat expansion inFGF14causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Author

Rafehi, Haloom, primary, Read, Justin, additional, Szmulewicz, David J, additional, Davies, Kayli C., additional, Snell, Penny, additional, Fearnley, Liam G, additional, Scott, Liam, additional, Thomsen, Mirja, additional, Gillies, Greta, additional, Pope, Kate, additional, Bennett, Mark F, additional, Munro, Jacob E, additional, Ngo, Kathie J., additional, Chen, Luke, additional, Wallis, Mathew J, additional, Butler, Ernest G, additional, Kumar, Kishore R, additional, Wu, Kathy HC, additional, Tomlinson, Susan E, additional, Tisch, Stephen, additional, Malhotra, Abhishek, additional, Lee-Archer, Matthew, additional, Dolzhenko, Egor, additional, Eberle, Michael A., additional, Roberts, Leslie J, additional, Fogel, Brent L, additional, Brüggemann, Norbert, additional, Lohmann, Katja, additional, Delatycki, Martin B., additional, Bahlo, Melanie, additional, and Lockhart, Paul J, additional

Published
2022
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82. A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

Author

Rodden, Layne N., primary, Rummey, Christian, additional, Dong, Yi Na, additional, Lagedrost, Sarah, additional, Regner, Sean, additional, Brocht, Alicia, additional, Bushara, Khalaf, additional, Delatycki, Martin B., additional, Gomez, Christopher M., additional, Mathews, Katherine, additional, Murray, Sarah, additional, Perlman, Susan, additional, Ravina, Bernard, additional, Subramony, S. H., additional, Wilmot, George, additional, Zesiewicz, Theresa, additional, Bolotta, Alessandra, additional, Domissy, Alain, additional, Jespersen, Christine, additional, Ji, Baohu, additional, Soragni, Elisabetta, additional, Gottesfeld, Joel M., additional, and Lynch, David R., additional

Published
2022
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85. Direct utility of natural history data in analysis of clinical trials: Propensity match-based analysis of Omaveloxolone in Friedreich ataxia using the FA-COMS dataset

Author

Lynch, David R, primary, Goldsberry, Angie, additional, Rummey, Christian, additional, Farmer, Jennifer, additional, Boesch, Sylvia, additional, Delatycki, Martin B., additional, Giunti, Paola, additional, Hoyle, J. Chad, additional, Mariotti, Caterina, additional, Mathews, Katherine D., additional, Nachbauer, Wolfgang, additional, Perlman, Susan, additional, Subramony, S.H., additional, Wilmot, George, additional, Zesiewicz, Theresa, additional, Weissfeld, Lisa, additional, and Meyer, Colin, additional

Published
2022
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93. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

Author

Barbier, Mathieu, primary, Bahlo, Melanie, additional, Pennisi, Alessandra, additional, Jacoupy, Maxime, additional, Tankard, Rick M., additional, Ewenczyk, Claire, additional, Davies, Kayli C., additional, Lino‐Coulon, Patricia, additional, Colace, Claire, additional, Rafehi, Haloom, additional, Auger, Nicolas, additional, Ansell, Brendan R. E., additional, van der Stelt, Ivo, additional, Howell, Katherine B., additional, Coutelier, Marie, additional, Amor, David J., additional, Mundwiller, Emeline, additional, Guillot‐Noël, Lena, additional, Storey, Elsdon, additional, Gardner, R. J. McKinlay, additional, Wallis, Mathew J., additional, Brusco, Alfredo, additional, Corti, Olga, additional, Rötig, Agnès, additional, Leventer, Richard J., additional, Brice, Alexis, additional, Delatycki, Martin B., additional, Stevanin, Giovanni, additional, Lockhart, Paul J., additional, and Durr, Alexandra, additional

Published
2022
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94. Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al

Author

Righetti, Sarah, primary, Dive, Lisa, additional, Archibald, Alison D., additional, Freeman, Lucinda, additional, McClaren, Belinda, additional, Kanga-Parabia, Anaita, additional, Delatycki, Martin B., additional, Laing, Nigel G., additional, Kirk, Edwin P., additional, Newson, Ainsley J., additional, Barlow-Stewart, Kristine, additional, Best, Stephanie, additional, Boggs, Kirsten, additional, Ebzery, Camron, additional, Edwards, Samantha, additional, Fehlberg, Zoe, additional, Fitzgerald, Lara, additional, Halliday, Jane, additional, Harrison, Katrina, additional, Kennedy, Jillian, additional, Long, Janet, additional, Massie, John, additional, Tutty, Erin, additional, Allcock, Richard, additional, Caruana, Jade, additional, Casella, Rachael, additional, Davis, Mark, additional, Hardy, Tristan, additional, Jelenich, Sarah, additional, Lunke, Sebastian, additional, McGaughran, Julie, additional, and Ravenscroft, Gina, additional

Published
2022
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99. Friedreich Ataxia

Author

Corben, Louise A., primary, Yiu, Eppie M., additional, Evans-Galea, Marguerite V., additional, and Delatycki, Martin B., additional

Published
2016
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100. Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy.

Author

Johnston, Molly, Warton, Chanelle, Pertile, Mark D., Taylor‐Sands, Michelle, Delatycki, Martin B., Hui, Lisa, Savulescu, Julian, and Mills, Catherine

Abstract

Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non‐invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future children. This paper discusses the ethical issues that arise around NIPT for SCAs and current guidelines and protocols for management. The first section outlines current practice and the limitations of NIPT for SCAs. It then outlines key guidelines before discussing the ethical issues raised by this use of NIPT. We conclude that while screening for SCAs should be made available for people seeking to use NIPT, its implementation requires careful consideration of what, when and how information is provided to users. Key points: What's already known about this area?It is known that expanded non‐invasive prenatal testing raises significant ethical issues, especially in relation to reproductive autonomy. What does this study add?This study discusses ethical issues raised specifically by screening for sex chromosome aneuploidies (SCAs), in the context of current practice and existing guidelines. It shows that providing screening for SCAs is consistent with the principle of reproductive autonomy. [ABSTRACT FROM AUTHOR]

Published
2023
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